nsv5383052
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:306
- Description:nsv4786103 from Abel et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 140 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 140 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5383052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 67,219,773 | 67,220,078 |
| nsv5383052 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 67,253,676 | 67,253,981 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16868169 | alu deletion | Curated | Curated |
| nssv16885615 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16868169 | Remapped | Perfect | NC_000016.10:g.672 19773_67220078del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 67,219,773 | 67,220,078 |
| nssv16885615 | Remapped | Perfect | NC_000016.10:g.672 19773_67220078del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 67,219,773 | 67,220,078 |
| nssv16868169 | Submitted genomic | NC_000016.9:g.6725 3676_67253981del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 67,253,676 | 67,253,981 | ||
| nssv16885615 | Submitted genomic | NC_000016.9:g.6725 3676_67253981del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 67,253,676 | 67,253,981 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16868169 | 0.28 | 8176 | 29246 |
| nssv16885615 | 0.323 | 5441 | 16834 |